Linked Data
dbSNP Id:
rs746657282
ExAC:
14:24709772 C / A
gnomAD v2:
14-24709772-C-A
gnomAD v3:
14-24240566-C-A
gnomAD v4:
14-24240566-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240566C>A , CM000676.2:g.24240566C>A | GRCh38 |
| NC_000014.8:g.24709772C>A , CM000676.1:g.24709772C>A | GRCh37 |
| NC_000014.7:g.23779612C>A | NCBI36 |
| NG_016650.1:g.7109G>T | |
| NG_054634.1:g.13150C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1217G>T | ||
| ENST00000557921.3:c.806G>T | ENSP00000453157.3:p.Ser269Ile | |
| ENST00000699682.1:n.1304G>T | ||
| ENST00000699683.1:n.1354G>T | ||
| ENST00000699684.1:c.*507G>T | ENSP00000514523.1:n.*507G>T | |
| ENST00000699685.1:n.1118G>T | ||
| ENST00000699686.1:c.707G>T | ENSP00000514524.1:p.Ser236Ile | |
| ENST00000699687.1:c.809G>T | ENSP00000514525.1:p.Ser270Ile | |
| ENST00000699688.1:n.1114G>T | ||
| ENST00000699689.1:n.1470G>T | ||
| ENST00000699690.1:n.1667G>T | ||
| ENST00000699691.1:n.1811G>T | ||
| ENST00000699693.1:n.1331G>T | ||
| ENST00000699694.1:n.1573G>T | ||
| ENST00000699695.1:c.*286G>T | ENSP00000514526.1:n.*286G>T | |
| ENST00000699696.1:n.1217G>T | ||
| ENST00000699697.1:c.914G>T | ENSP00000514527.1:p.Ser305Ile | |
| ENST00000699698.1:n.835G>T | ||
| ENST00000699699.1:n.1238G>T | ||
| ENST00000699700.1:n.1361G>T | ||
| ENST00000699701.1:c.*294G>T | ENSP00000514528.1:n.*294G>T | |
| ENST00000267415.12:c.914G>T MANE Select | ENSP00000267415.7:p.Ser305Ile | |
| ENST00000557921.2:c.806G>T | ENSP00000453157.2:p.Ser269Ile | |
| ENST00000646753.1:c.809G>T | ENSP00000494065.1:p.Ser270Ile | |
| ENST00000267415.11:c.914G>T | ENSP00000267415.7:p.Ser305Ile | |
| ENST00000399423.8:c.914G>T | ENSP00000382350.4:p.Ser305Ile | |
| ENST00000557915.1:n.33G>T | ||
| ENST00000558566.1:c.*286G>T | ENSP00000453025.1:n.*286G>T | |
| ENST00000559019.1:c.*286G>T | ENSP00000453675.1:n.*286G>T | |
| ENST00000559969.5:c.758-86G>T | ||
| ENST00000626689.2:c.*286G>T | ENSP00000486681.1:n.*286G>T | |
| NM_001099274.1:c.914G>T | NP_001092744.1:p.Ser305Ile | |
| NM_012461.2:c.914G>T | NP_036593.2:p.Ser305Ile | |
| XM_005267528.2:c.914G>T | XP_005267585.1:p.Ser305Ile | |
| XM_005267529.2:c.809G>T | XP_005267586.1:p.Ser270Ile | |
| NM_001099274.2:c.914G>T | NP_001092744.1:p.Ser305Ile | |
| NM_001363668.1:c.809G>T | NP_001350597.1:p.Ser270Ile | |
| NM_012461.3:c.914G>T | NP_036593.2:p.Ser305Ile | |
| XM_011536642.2:c.*294G>T | XP_011534944.1:n.*294G>T | |
| XM_017021216.2:c.272G>T | XP_016876705.1:p.Ser91Ile | |
| XM_017021217.1:c.272G>T | XP_016876706.1:p.Ser91Ile | |
| NM_001099274.3:c.914G>T MANE Select | NP_001092744.1:p.Ser305Ile | |
| NM_001363668.2:c.809G>T | NP_001350597.1:p.Ser270Ile |